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rs199641706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199641706(C;C)
Make rs199641706(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position35867417
GeneIL7R
is asnp
is mentioned by
dbSNPrs199641706
dbSNP (classic)rs199641706
ClinGenrs199641706
ebirs199641706
HLIrs199641706
Exacrs199641706
Gnomadrs199641706
Varsomers199641706
LitVarrs199641706
Maprs199641706
PheGenIrs199641706
Biobankrs199641706
1000 genomesrs199641706
hgdprs199641706
ensemblrs199641706
geneviewrs199641706
scholarrs199641706
googlers199641706
pharmgkbrs199641706
gwascentralrs199641706
openSNPrs199641706
23andMers199641706
23andMe allrs199641706
SNPshotrs199641706
SNPdbers199641706
MSV3drs199641706
GWAS Ctlgrs199641706
Max Magnitude0
ClinVar
Risk rs199641706(A;A) rs199641706(C;C)
Alt rs199641706(A;A) rs199641706(C;C)
Reference Rs199641706(T;T)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene IL7R
CLNDBN Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Reversed 0
HGVS NC_000005.9:g.35867519T>A
CLNSRC
CLNACC RCV000416601.1,